Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Skrabl-Baumgartner, A; Christine Hauer, A; Erwa, W; Jahnel, J.
HLA genotyping as first-line screening tool for coeliac disease in children with juvenile idiopathic arthritis.
Arch Dis Child. 2017; 102(7):607-611
Doi: 10.1136/archdischild-2016-311544
Web of Science
PubMed
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- Führende Autor*innen der Med Uni Graz
- Skrabl-Baumgartner Andrea
- Co-Autor*innen der Med Uni Graz
- Erwa Wolfgang
- Hauer Almuthe
- Jahnel Jörg
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- Abstract:
- Coeliac disease (CD) and juvenile idiopathic arthritis (JIA) often coexist. This association warrants assessment for CD in patients with JIA. We evaluated the clinical relevance and cost-effectiveness of human leucocyte antigen (HLA) genotyping in first-line screening for development of CD in children with JIA. 95 patients with JIA were screened for CD using CD-specific antibodies. In case of positivity, a small intestinal biopsy was performed to confirm diagnosis. In addition, HLA genotyping was performed. 110 age-matched and sex-matched Caucasian children from the same geographical area served as controls. CD was diagnosed in 4 of 95 patients with JIA (4.2%), a rate significantly higher compared with controls (p<0.02) and 14 times higher than in the general population. Twenty-six patients (27.4%) had one of the variants of the risk genotypes. All four patients diagnosed with CD had a HLA-DQ2.5 genotype: one was homozygote, the remainder heterozygote. Twenty-two patients are, judging by their HLA genotypes, at risk of developing CD and require repeated serological screening. None of the 69 patients without HLA-DQ2/DQ8 genotypes had CD-specific antibodies. Screening with HLA genotyping becomes cheaper than screening without after the second determination. In our cohort of patients with JIA, lack of HLA-DQ2/DQ8 genotypes identified a majority not at risk of CD in whom repeated serological testing is unnecessary. Genotyping is nowadays the most efficient and cost-effective way to screen for CD risk in JIA. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.
- Find related publications in this database (using NLM MeSH Indexing)
- Adolescent -
- Age of Onset -
- Arthritis, Juvenile - economics
- Arthritis, Juvenile - genetics
- Arthritis, Juvenile - immunology
- Autoantibodies - metabolism
- Celiac Disease - diagnosis
- Celiac Disease - economics
- Celiac Disease - genetics
- Celiac Disease - immunology
- Child -
- Child, Preschool -
- Cost-Benefit Analysis -
- Early Diagnosis -
- Female -
- Genotype -
- Genotyping Techniques - economics
- Genotyping Techniques - methods
- HLA-DQ Antigens - genetics
- Humans -
- Infant -
- Male -
- Prospective Studies -